Associated Papers
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.
Zhao X et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
[A Japanese family with POMT2-related limb girdle muscular dystrophy].
Tomita Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2021
Limb girdle muscular dystrophy due to mutations in POMT2.
Østergaard ST et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
[Limb-girdle muscular dystrophy; update].
Sunada Y
Rinsho Shinkeigaku = Clinical Neurology, 2004
[A family with oculopharyngeal muscular dystrophy with (GCG)9 expansion in which a sister had neck as well as proximal and her brother proximal lower limb muscle weakness].
Takahashi T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2000
[Staircase phenomenon in "mitochodrial myopathy' and limb-girdle type muscular dystrophy].
Sunohara N et al.
Rinsho Shinkeigaku = Clinical Neurology, 1982
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